中文摘要：

目的 探讨paraplegin基因在中国人遗传性痉挛性截瘫（HSP或SPG）中的突变特点，为该病的基因诊断奠定基础。方法 应用聚合酶链反应-单链构象多态性（PCR-SSCP）结合DNA序列分析方法，对来自全国8个常染色体隐性遗传HSP家系的先证者和14例散发性HSP患者进行paraplegin基因突变分析。结果 所有外显子均可扩出，发现15号外显子上2例先证者出现异常SSCP条带，经DNA序列分析发现2063及2066位点上存在碱基G被A替换，但家系内不存在共分离的现象，且正常对照者也存在G被A替换，考虑为多态，其中G2066A为首次发现。结论 Paraplegin基因突变可能在中国人HSP患者中少见。2063G→A及2066G→A是paraplegin基因的两个多态性改变，其中2066G→A为首次发现。

英文摘要：

Objective To investigate the mutation characteristics of paraplegin gene in Chinese patients with hereditary spastic paraplegia （HSP） and establish the base of the gene diagnosis of HSP. Methods Mutation analysis of paraplegin gene was carried out by use of polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） combined with DNA direct sequencing in 22 unrelated affected HSP individuals in China, in which 8 probands were from autosomal recessive families and 14 cases were sporadic. Results All of the exons could be detected by PCR. 2 probands were found to have abnormal SSCP bands in exon 15 and 2 substitutes （G2063A, G2066A in exon 15 ） were found by DNA direct sequencing. But there were no changes in other patients of families. The same abnormal SSCP bands and G--~A substitutes were revealed in control individuals. So these changes were two polymorphisms, in which G2066A was not reported previously. Conclusion Mutations of paraplegin gene may be rare in Chinese patients with HSP. G2063A and G2066A are two polymorphisms, in which G2066A has not been reported previously.